VCF Type: clinvar
Report Date: 2025-07-05 21:38
Pipeline: Rare Disease Variant Prioritization v2.0
High Priority Variants
Medium Priority Variants
Low Priority Variants
Total Variants
| CHROM | POS | REF | ALT | SYMBOL | Consequence | CLIN_SIG | priority_score | |
|---|---|---|---|---|---|---|---|---|
| 0 | 1 | 1789052 | CCT | C | GNB1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 1 | 1 | 1527721 | AAC | A | ATAD3A | frameshift_variant | ['Pathogenic'] | 17.0 |
| 2 | 1 | 1337995 | CG | C | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 3 | 1 | 1338000 | CT | C | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 4 | 1 | 1517250 | GC | G | ATAD3A | frameshift_variant | ['Pathogenic'] | 17.0 |
| 5 | 1 | 1338023 | CG | C | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 6 | 1 | 1338033 | TAGGCAGG | C | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 7 | 1 | 1338045 | AA | G | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 8 | 1 | 1338053 | TG | T | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 9 | 1 | 1338059 | TC | T | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 10 | 1 | 1338086 | AC | A | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 11 | 1 | 1338092 | AG | A | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 12 | 1 | 1338096 | CA | C | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 13 | 1 | 1338098 | GGGGGCAGCCGGGT | G | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 14 | 1 | 1338107 | CG | C | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 15 | 1 | 1051635 | C | CTG | AGRN | frameshift_variant | ['Pathogenic'] | 17.0 |
| 16 | 1 | 1338107 | CGGGTGGGGCAGCG | C | DVL1 | frameshift_variant | ['Pathogenic/Likely_pathogenic'] | 17.0 |
| 17 | 1 | 1014316 | C | CG | ISG15 | frameshift_variant | ['Pathogenic'] | 17.0 |
| 18 | 1 | 1045840 | GACGGCCGTGC | G | AGRN | frameshift_variant | ['Pathogenic'] | 17.0 |
| 19 | 1 | 1338143 | AG | A | DVL1 | frameshift_variant | ['Pathogenic'] | 17.0 |
This report is for research purposes. Clinical decisions should involve genetic counseling.